Finding out that you have a genetic risk to have blood clots gives you the opportunity to make changes to your lifestyle and obtain appropriate treatment to prevent blood clots from forming. Learn from others with thrombophilia or contact us to share your story.

Lori’s Story: Living with Thrombophilia
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Lori’s Story: Living with Thrombophilia

I remember the conversation as if it were yesterday. My mother shared with me painful recollections of numerous miscarriages and the loss of her son, a stillborn she delivered 14 months before she gave birth to me. We never talked about these sad experiences again, not until 1999.

In June of 1999, I was eight weeks pregnant and went to my obstetrician for my first pregnancy check-up. Before seeing the doctor, I filled out a family history form noting that my younger brother, my mother, and my maternal grandmother all had blood clots. I discussed this medical finding with my doctor and she ordered DNA testing to see if I had a genetic predisposition to clotting.

Two weeks passed and I assumed that everything from my check-up was fine. I was wrong. My doctor called and said my DNA lab results showed that I am homozygous for a blood clotting condition called Factor V Leiden. Having this disorder along with being pregnant put me at "high risk." Without medication, I had the possibility of developing clots that could result in a miscarriage. I immediately met with a hematologist and perinatalogist to discuss my disorder.

I learned that being homozygous, which means I inherited a defective gene from both my mom and dad, puts me at an 80-100 times increased risk of having a blood clot. Since my doctors did not have a lot of experience with pregnant homozygous Factor V Leiden patients, my case was presented during rounds at Johns Hopkins Hospital. My medical management included daily injections of low-molecular-weight heparin during my pregnancy and during post-delivery.

Initially I was scared. I was concerned the heparin would harm the baby and me. There seemed to be a general lack of information regarding this disorder, and I felt isolated. My fear was further exacerbated when my mother developed pulmonary embolisms (blood clots in the lungs) during my pregnancy. Fortunately, she recovered and is now managed with coumadin therapy.

In order to become more knowledgeable about Factor V Leiden, I read my doctor's notes, lab tests, and articles on the Internet. I had faith in my doctors, and my pregnancy went well. On January 17,2000 we were blessed with the birth of our daughter.

I am truly grateful for the birth of our daughter as well as my new knowledge of Factor V Leiden. This knowledge has given me the opportunity to educate my extended family about its affects. My mother, father, brother, daughter, aunt, and cousins have Factor V Leiden.

Since discovering my disorder, I am enjoying life, and I try to make smart choices every day to decrease my risk of clotting. For example, I stay hydrated, I exercise, and I am not on birth control, and I don't smoke. Thanks to my experience, I feel empowered to educate people, particularly women, about thrombosis and thrombophilia. If nothing else, I want my daughter to understand and accept the disorder, not to fear it. 

Interview with a Thrombophila Expert

Elizabeth Varga, MS, CGC is a board-certified genetic counselor at Columbus Children’s Research Institute and is also on the medical and scientific advisory board of NATT. Her story is featured in a blog interview with Lisa Lee. COMING SOON!

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Find a provider who has special expertise in treating individuals with blood clots. NATT lists providers who are part of the CDC Thrombophilia “pilot” multidisciplinary care centers.
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Have you had an experience with thrombophila that you would like to share with others to help increase awareness of this testing? Please contact us at editor @ dnadirect.com and your story could be posted here, too.